Juvenile cataract in association with tuberous sclerosis complex.

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by benign hamartomas occurring in multiple organ systems including the brain, kidneys, heart, lungs, liver, skin, and the eyes. Typical retinal findings associated with TSC include astrocytic hamartoma and achromic patch. While rare cases of cataract occurring in the setting of TSC have been reported, this is the first analysis of a large series of individuals with TSC that aims to quantify the frequency of this finding and to describe its clinical and genetic associations. MATERIALS AND METHODS: This is a retrospective chart review of 244 patients from the Herscot Center for Tuberous Sclerosis Complex at the Massachusetts General Hospital who underwent complete ophthalmic examination. We describe the clinical and genetic findings in five individuals with TSC and juvenile cataract. RESULTS: Four of five cases (80%) were unilateral. The cataract was described as having an anterior subcapsular component in 3 of 5 cases (60%). Three individuals (60%) underwent lensectomy with intraocular lens (IOL) implant and two individuals (40%) were observed. Genetic testing revealed a known disease-causing mutation in TSC2 in 100% of cases. CONCLUSIONS: Recent evidence suggests that mTOR signaling may play a role in cataract formation which could explain the relatively high incidence of juvenile cataract in this population. Juvenile cataract is a potentially under-recognized ocular manifestation of TSC.

Two different cementless femoral components in primary total hip arthroplasty.

The results of first (51 Harris-Galante stems with an average follow-up of 12.3 years) and second generation (53 MultiLock stems with an average of 6.4 years) cementless femoral stems in total hip replacement were analysed. Ten Harris-Galante stems were revised (9.8% at 8 years and 22.8% at 13 years) and one unstable MultiLock stem (2.6% at 8 years). Thirty-seven Harris-Galante and 45 MultiLock stems were osseo-integrated. Femoral osteolysis was seen in 21 Harris-Galante (26.6% at 8 years and 43.7% at 13 years) and in 3 MultiLock stems (8.0% at 8 years). At intermediate follow-up, second generation stems show less bone remodelling changes than first generation stems at the same interval. Distal osteolysis and pronounced stress-shielding have not been encountered in second generation stems. (Hip International 2002; 12: 289-302).

Effects of reality orientation therapy on elderly patients in the community.

Twenty-three institutionalized subjects, confused and disoriented as to time, space and persons, were divided into two groups: the study group and the control group. The study group then participated in a 3-month period of formal Realithy Orientation Therapy (ROT). At the end of the 3 months of therapy significant differences emerged in the scores of MMSE, OSGP and GDS obtained by the two groups. Moreover, significant positive differences were observed only in the study group, comparing the tests' results before and after therapy. Even the comparison of the results obtained at the end of the sessions and 3 months after the interruption of the therapy revealed a difference in the trends that emerged for the two groups.